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- Title
Chediak-Higashi syndrome presenting in the accelerated phase.
- Authors
Palaniyandi, S.; Sivaprakasam, E.; Pasupathy, U.; Ravichandran, L.; Rajendran, A.; Suman, F. R.; Rajendra Prasad, S.
- Abstract
Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive disorder characterised by recurrent pyogenic infections, partial oculocutaneous albinism, and mild bleeding. The most reliable finding that helps in diagnosis is abnormally large granules in leukocytes and other granule-containing cells. Herein we report a case of CHS in a 3-month-old girl who presented to us in the accelerated phase of the disease. The case is reported because of the extreme rarity of CHS presenting in the accelerated phase at diagnosis.
- Subjects
CHEDIAK-Higashi syndrome; ALBINOS &; albinism; LEUCOCYTES; DIAGNOSIS; HEMORRHAGE
- Publication
South African Journal of Child Health, 2017, Vol 11, Issue 2, p104
- ISSN
1994-3032
- Publication type
Article
- DOI
10.7196/SAJCH.2017.v11i2.1277